Morphological changes of the jejunal mucosa in protracted diarrhea and their correlation with disease duration, weight loss and serum albumin levels

The pathogenesis of protracted diarrhea is multifactorial. In developing countries, intestinal infectious processes seem to play an important role in triggering the syndrome. Thirty-four children aged 1 to 14 months, mean 6.5 months, with protracted diarrhea were studied clinically and in terms of small intestinal mucosal morphology. Mild, moderate or severe hypotrophy of the jejunal mucosa was detected in 82% of cases, and mucosal atrophy was observed in 12%. The intensity of the morphological changes of the jejunal mucosa correlated negatively with serum albumin levels. No correlation was detected between mucosal grading and duration of diarrhea or between mucosal grading and weight reported as percentile. After nutritional support was instituted, serial jejunal biopsies were obtained from 12 patients: five patients submitted to parenteral nutrition for 7 to 38 days, mean 17 days, and 7 patients receiving a hypoallergenic oral diet (semi-elemental formula, 3; chicken formula, 3; human milk, 1). In seven cases (58%) a progressive increase in villus height and a decrease in the number of inflammatory cells were noted. Recovery of the morphologic pattern was accompanied by clinical improvement in all patients

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia

Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotype. Genotypes were classified into three mutation groups (A, B, and C) based on the amount of enzymatic activity in in vitro studies using adrenal cells. In 94 unrelated alleles, we diagnosed 76% of the affected alleles after screening for 7 microconversions. The most frequent point mutations observed in this series were I172N (19%), V281L (18%), and IVS2,A/C>G,-12 (15%). In the SW form, the most frequent mutation was IVS2,A/C>G,-12 (38%), in the SV form it was I172N (53%), and in the NC form it was V281L (57.7%). We observed a good correlation between genotype and phenotype. Discordance between genotype and phenotype was found in one SV patient with a mild mutation in one of the alleles (R356W/V281L). However, we cannot rule out the presence of an additional mutation in these alleles. We also observed a good correlation of genotype with 17alpha-hydroxyprogesterone, testosterone, and androstenedione levels. The severity of external genitalia virilization correlated with the severity of mutation. In conclusion, the frequencies described in the present study did not differ from worldwide studies, including the Brazilian population. The few differences observed may reflect individual sample variations. This new Brazilian cohort study suggests the presence of new mutations in Brazilian patients with different forms of CAH-21OH.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.

Cellular and molecular studies of the effects of a selective COX-2 inhibitor celecoxib in the cardiac cell line H9c2 and their correlation with death mechanisms

Cardiovascular disease is one of the leading causes of death worldwide, and evidence indicates a correlation between the inflammatory process and cardiac dysfunction. Selective inhibitors of cyclooxygenase-2 (COX-2) enzyme are not recommended for long-term use because of potentially severe side effects to the heart. Considering this and the frequent prescribing of commercial celecoxib, the present study analyzed cellular and molecular effects of 1 and 10 µM celecoxib in a cell culture model. After a 24-h incubation, celecoxib reduced cell viability in a dose-dependent manner as also demonstrated in MTT assays. Furthermore, reverse transcription-polymerase chain reaction analysis showed that the drug modulated the expression level of genes related to death pathways, and Western blot analyses demonstrated a modulatory effect of the drug on COX-2 protein levels in cardiac cells. In addition, the results demonstrated a downregulation of prostaglandin E2 production by the cardiac cells incubated with celecoxib, in a dose-specific manner. These results are consistent with the decrease in cell viability and the presence of necrotic processes shown by Fourier transform infrared analysis, suggesting a direct correlation of prostanoids in cellular homeostasis and survival.

Evaluation of Toll-like, chemokine, and integrin receptors on monocytes and neutrophils from peripheral blood of septic patients and their correlation with clinical outcomes

Recognition of pathogens is performed by specific receptors in cells of the innate immune system, which may undergo modulation during the continuum of clinical manifestations of sepsis. Monocytes and neutrophils play a key role in host defense by sensing and destroying microorganisms. This study aimed to evaluate the expression of CD14 receptors on monocytes; CD66b and CXCR2 receptors on neutrophils; and TLR2, TLR4, TLR5, TLR9, and CD11b receptors on both cell types of septic patients. Seventy-seven septic patients (SP) and 40 healthy volunteers (HV) were included in the study, and blood samples were collected on day zero (D0) and after 7 days of therapy (D7). Evaluation of the cellular receptors was carried out by flow cytometry. Expression of CD14 on monocytes and of CD11b and CXCR2 on neutrophils from SP was lower than that from HV. Conversely, expression of TLR5 on monocytes and neutrophils was higher in SP compared with HV. Expression of TLR2 on the surface of neutrophils and that of TLR5 on monocytes and neutrophils of SP was lower at D7 than at D0. In addition, SP who survived showed reduced expression of TLR2 and TLR4 on the surface of neutrophils at D7 compared to D0. Expression of CXCR2 for surviving patients was higher at follow-up compared to baseline. We conclude that expression of recognition and cell signaling receptors is differentially regulated between SP and HV depending on the receptor being evaluated.

Cranial sexual discrimination in hatchling broad-snouted caiman (Caiman latirostris)

Broad-snouted caiman (Caiman latirostris) hatchlings present a consistent sexual dimorphism in their cranium shape and size. Male hatchlings have smaller crania than females. Using multivariate statistical analyses it is possible to discriminate sex in broad-snouted caiman hatchlings by their cranial shape with a reasonable efficiency. The understanding of sexual dimorphism of crocodilian hatchlings might be possibly improved by experimental approach considering, genetic and phenotypic variables such as incubation temperature and clutch of origin.

Diversity of Chromobacterium violaceum isolates from aquatic environments of state of Pará, Brazilian Amazon

The present study intended to characterize the phenotypic and genetic diversity of Brazilian isolates of Chromobacterium violaceum from aquatic environments within the Amazon region. Nineteen isolates showed morphological properties of C. violaceum and the majority grew at 44°C. Low temperatures, in contrast, showed to be inhibitory to their growth, as eleven isolates did not grow at 10ºC and nine did not produce pigmentation, clearly indicating an inhibition of their metabolism. The largest variation among isolates was observed in the citrate test (Simmons), in which 12 isolates were positive, and in the oxidation/fermentation of sucrose, with six positives isolates. Chloramphenicol, gentamicin and sulfonamides efficiently inhibited bacterial growth. Amplified products of the recA gene were digested with HindII or PstI, which produced three or four restriction fragments patterns, respectively. The combined analysis arranged the isolates into six genospecies. The higher diversity observed in Belém (genotypes C, D, E and F) may be a consequence of intense human occupation, pollution of the aquatic environment or due to the higher diversity of the environments sampled in that region. In conclusion, a high level of genetic and phenotypic diversity was observed, and four new genospecies were described.

Sample size for full-sib family evaluation in sugarcane

The objective of this study was to determine the minimum number of plants per plot that must be sampled in experiments with sugarcane (Saccharum officinarum) full-sib families in order to provide an effective estimation of genetic and phenotypic parameters of yield-related traits. The data were collected in a randomized complete block design with 18 sugarcane full-sib families and 6 replicates, with 20 plants per plot. The sample size was determined using resampling techniques with replacement, followed by an estimation of genetic and phenotypic parameters. Sample-size estimates varied according to the evaluated parameter and trait. The resampling method permits an efficient comparison of the sample-size effects on the estimation of genetic and phenotypic parameters. A sample of 16 plants per plot, or 96 individuals per family, was sufficient to obtain good estimates for all traits considered of all the characters evaluated. However, for Brix, if sample separation by trait were possible, ten plants per plot would give an efficient estimate for most of the characters evaluated.

Estimates of genetic parameters for fruit yield and quality in custard apple progenies

Apparently, there are no custard apple cultivars defined for the northeastern region of Brazil. The establishment of breeding programs aimed at the selection of types from productive locations for later cloning is desirable. This work's objective was to evaluate the yield (during the first three crops) and quality (first crop) of fruits from 20 half-sibling custard apple tree progenies, selected from home orchards. An additional objective was to estimate genetic parameters for the traits evaluated. A micro sprinkling-irrigated experiment was conducted in Mossoró-RN, Brazil, as random blocks with five replications. In characteristics evaluated for periods longer than a year (diameter, height and mean weight of fruits, number of fruits ha-1 and fruit yield (kg ha-1), and a split-plot design was adopted, with progenies considered as plots and annual cropping seasons as subplots. The best progenies in terms of fruit yield (A3 and A4) are not necessarily the best for fruit dimensions and fruit mean weight (A2, FE4, JG1, JG2, SM1, SM7, and SM8). These progenies show great potential to be used in future studies on crosses or on vegetative propagation. In this regard, progeny JG2 should be highlighted as promising in terms of yield and fruit size. The progenies are not different with regard to percentages (in relation to mean fruit mass) of pericarp, endocarp, seeds, and receptacle, in the fruit, and fruit volume, number of seeds/fruit, and total soluble solids content in the fruit pulp, but progeny FE4 presents higher total titratable acidity in the fruit pulp. Narrow-sense heritability estimates were relatively high for all characteristics in which there was variability between progenies, with higher values for number of fruits ha-1 (80 %) and fruit yield (78 %). Relatively high coefficients of genotypic variation (around 20%) were observed for number of fruits ha-1 and fruit yield, with lower values for the other characteristics. There were positive genotypic and phenotypic correlations between fruit diameter (FD) and fruit height, FD and mean fruit weight, and number of fruits ha-1 and fruit yield.

Phenotypic correlations and path analysis for plant architecture traits and grain production in three generations of cowpea

ABSTRACT The objective of this study was to analyze the phenotypic correlation and path analysis of traits related to plant architecture, earliness and grain yield in F2, BC1 and BC2 generations, from crosses between cowpea cultivars BRS Carijó and BR14 Mulato. Most phenotypic correlations of the examined traits were concordant in statistical significance, with approximate values ​​among the examined generations. For the trait seed weight, significant and positive phenotypic correlations were observed in the three generations only for the trait number of secondary branches. The values ​​of the direct effects were in agreement with the values ​​of the phenotypic correlations, which indicate true association by the phenotypic correlation among the traits of grain yield examined. Path analysis indicated that the selection of productive plants will result in early plants and an increased number of secondary branches. In F2, plants with shorter length of the main branch and shorter length of secondary branches can be obtained. The causal model explained 15 to 30% of the total variation in grain weight in relation to the traits examined. The analyses indicated the possibility of selecting plants with a higher and early grain yield, shorter length of primary branches and lower number of nodes, which are important variables for mechanical or semi-mechanical harvesting.

Estimation of Genetic Divergence and Gene Flow between Culex pipiens and Culex quinquefasciatus (Diptera: Culicidae) in Argentina

Allele frequencies at seven polymorphic loci controlling the synthesis of enzymes were analyzed in six populations of Culex pipiens L. and Cx. quinquefasciatus Say. Sampling sites were situated along a north-south line of about 2,000 km in Argentina. The predominant alleles at Mdh, Idh, Gpdh and Gpi loci presented similar frequencies in all the samples. Frequencies at the Pgm locus were similar for populations pairs sharing the same geographic area. The loci Cat and Hk-1 presented significant geographic variation. The latter showed a marked latitudinal cline, with a frequency for allele b ranging from 0.99 in the northernmost point to 0.04 in the southernmost one, a pattern that may be explained by natural selection (FST = 0.46; p < 0.0001) on heat sensitive alleles. The average value of FST (0.088) and Nm (61.12) indicated a high gene flow between adjacent populations. A high correlation was found between genetic and geographic distance (r = 0.83; p < 0.001). The highest genetic identity (IN = 0.988) corresponded to the geographically closest samples from the central area. In one of these localities Cx. quinquefasciatus was predominant and hybrid individuals were detected, while in the other, almost all the specimens were identified as Cx. pipiens. To verify the fertility between Cx. pipiens and Cx. quinquefasciatus from the northern- and southernmost populations, experimental crosses were performed. Viable egg rafts were obtained from both reciprocal crosses. Hatching ranged from 76.5 to 100%. The hybrid progenies were fertile through two subsequent generations

Genetic characterization of morphologically variant strains of Paracoccidioides brasiliensis

Molecular characterization of Paracoccidioides brasiliensis variant strains that had been preserved under mineral oil for decades was carried out by random amplified polymorphic DNA analysis (RAPD). On P. brasiliensis variants in the transitional phase and strains with typical morphology, RAPD produced reproducible polymorphic amplification products that differentiated them. A dendrogram based on the generated RAPD patterns placed the 14 P. brasiliensis strains into five groups with similarity coefficients of 72%. A high correlation between the genotypic and phenotypic characteristics of the strains was observed. A 750 bp-RAPD fragment found only in the wild-type phenotype strains was cloned and sequenced. Genetic similarity analysis using BLASTx suggested that this RAPD marker represents a putative domain of a hypothetical flavin-binding monooxygenase (FMO)-like protein of Neurospora crassa.

Prediction of direct and indirect genetic gains and genotypic correlations in rubber tree progenies

The objective of this work was to estimate the genetic parameters, genotypic and phenotypic correlations, and direct and indirect genetic gains among and within rubber tree (Hevea brasiliensis) progenies. The experiment was set up at the Municipality of Jaú, SP, Brazil. A randomized complete block design was used, with 22 treatments (progenies), 6 replicates, and 10 plants per plot at a spacing of 3x3 m. Three‑year‑old progenies were assessed for girth, rubber yield, and bark thickness by direct and indirect gains and genotypic correlations. The number of latex vessel rings showed the best correlations, correlating positively and significantly with girth and bark thickness. Selection gains among progenies were greater than within progeny for all the variables analyzed. Total gains obtained were high, especially for girth increase and rubber yield, which were 93.38 and 105.95%, respectively. Young progeny selection can maximize the expected genetic gains, reducing the rubber tree selection cycle.

Repeatability, correlation and path analysis of physical and chemical characteristics of peach fruits

This study aimed to determine the number of measurements necessary to evaluate physical and chemical characteristics of peach fruits, study the relationships between them and their direct and indirect effects on the content of ascorbic acid and total carotenoids. The characteristics skin and pulp color, fruit weight, suture, equatorial and polar diameters, firmness, soluble solids (SS), titratable acidity (TA), SS/TA ratio, ascorbic acid and total carotenoids were evaluated in 39 cultivars of peach and 3 cultivars of nectarine from the orchard of the Universidade Federal de Viçosa. The repeatability coefficient was estimated by ANOVA and CPCOR. Phenotypic correlation coefficients (rf) were estimated and, after the multicollinearity diagnostics, they were unfolded to direct and indirect effects of the explanatory variables on the response variable using path analysis. There was agreement on the magnitude of repeatability coefficients obtained by the two methods; however, they varied among the 14 characteristics. The highest correlations were found between FW, SD, ED and PD. Seven fruits are sufficient to evaluate the physical and chemical characteristics of peach with a correlation coefficient of 90%. The characteristics considered in the path diagrams (b* skin, hº skin, b* pulp, hº pulp, ED, PD, FIR, SS, SS/AT and TC) are not the main determinants of the ascorbic acid. The yellow hue of the pulp (hº pulp) has the potential to be used in indirect selection for total carotenoids.

REPEATABILITY OF FRUITS AND SEEDS PRODUCTION AND SELECTION OF BRAZIL NUT GENOTYPES IN NATIVE POPULATIONS IN RORAIMA1

ABSTRACT This study estimates the repeatability coefficients of two production traits in two native populations of Brazil nut trees. It determines the number of years of suitable evaluations for an efficient selection process, determines the permanent phenotypic correlation between production traits and also the selection of promising trees in these populations. Populations, located in the Itã region (ITA) and in the in the Cujubim region (CUJ), are both belonging to the municipality of Caracaraí, state of Roraima - Brazil, and consist of 85 and 51 adult trees, respectively. Each tree was evaluated regarding the number of fruits per plant (NFP) and fresh seed weight per plant (SWP), for eight (ITA) and five consecutive years (CUJ). Statistical analyses were performed according to the mixed model methodology, using Software Selegen-REML/BLUP (RESENDE, 2007). The repeatability coefficients were low for NFP (0.3145 and 0.3269 for ITA and CUJ, respectively) and also for SWP (0.2957 and 0.3436 for ITA and CUJ, respectively). It on average takes nine evaluation years to reach coefficients of determination higher than 80%. Permanent phenotypic correlation values higher than 0.95 were obtained for NFP and SWP in both populations. Although trees with a high number of fruits and seed weight were identified, more evaluation years are needed to perform the selection process more efficiently.